Physical Examination for Endocrine Diseases: Does It Still Play a Role?
Abstract
:1. Introduction
2. Main Palpatory Signs Associated with Endocrine Diseases
2.1. Palpatory Signs in Thyroid Diseases
2.2. Palpatory Signs in Scrotal Diseases
2.3. Palpatory Signs in Other Endocrinologic-Andrological Diseases
3. Main Dermatological Signs Associated with Endocrine Diseases
3.1. Dermatologic Signs in Cushing Syndrome
3.2. The Role of Skin Pigmentation Changes in Endocrine Diseases
3.3. Piliferous Evaluation in Endocrinology
3.4. Acne and Its Relevance in Endocrine Diseases
3.5. Acanthosis Nigricans in Endocrinology
3.6. Other Signs Associated with Rare Endocrine Diseases
4. Main Anthropometric Signs Associated with Endocrine Disorders
4.1. The Enuchoid Habitus in the Evaluation of the Hypothalamic-Pituitary-Gonadal Axis
4.2. Main Anthropometric Signs in Diseases of the GH-IGF1 Axis
4.3. Anthropometric Signs Associated with Hypothyroidism
5. Main Physical Sings Associated with Metabolic Disorders
5.1. Waist Circumference and Waist-to-Hip Ratio as Predictors of Cardiovascular Risk
5.2. Acanthosis Nigricans as a Sign of Metabolic Dysfunction in Endocrine Diseases
5.3. Signs Associated with Lipid Metabolism Abnormalities
6. Other Signs Associated with Endocrine Diseases
6.1. Signs of Hypocalcemia
6.2. Ophtalmological Evaluation in Invasive Diseases of the Hypothalamic-Pituitary Unit
7. Concluding Remarks
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
Abbreviations
ACTH | adrenocorticotropin |
GH | growth hormone |
GHIS | GH insensitivity syndromes |
IGF1 | insulin-like growth factor |
NCCAH | non-classic congenital adrenal hyperplasia |
NME | necrolytic migratory erythema |
PCOS | polycystic ovary syndrome |
POEMS | Polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes |
WHR | waist-to-hip ratio |
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Category | Type of Sign | Associated Findings | Diagnostic Suspicion |
---|---|---|---|
Palpatory signs | Goiter | Hormonal dysfunction | Hypothyroidism or Hyperthyroidism |
Painful goiter | Fever, initial symptoms of thyrotoxicosis, and previous viral infection | Subacute thyroiditis | |
Firm nodule | Lymphadenopathy | Thyroid cancer | |
Pemberton’s sign | Endothoracic goiter | ||
Mobile midline mass of the neck | Movement with protrusion of the tongue | Thyroglossal duct cysts | |
Pretibial myxedema | Thyrotoxicosis | Hyperthyroidism | |
Small testis | Reduced activation of the hypothalamic-pituitary-gonadal axis or reduced function of testis | Pubertal growth retardation or hypogonadism | |
Small firm testis | Hypergonadotropic hypogonadism | Prepubertal primary testiculopathy (such as Klinefelter syndrome) | |
Acute scrotal pain | Scrotal swelling | Testicular torsion, orchitis, epididymites | |
Blue dot sign | Torsion of the testicle appendix | ||
Testis firm nodule | History of cryptorchidism and/or young age | Testis cancer | |
Scrotal mass | Liquid transillumination with a torch | Hydrocele | |
Reflux at Valsalva’s maneuver or visible varices | Varicocele | ||
Absence of vas deferens at palpation | Obstructive azoospermia and Cystic Fibrosis | ||
Micropenis | Low gonadotropin and testosterone levels | Hypogonadotropic hypogonadism | |
High gonadotropin and low testosterone levels | Hypergonadotropic hypogonadism | ||
Low GH and IGF1 levels | GH deficiency | ||
High GH and low IGF1 levels | GHIS | ||
Gynecomastia | Low gonadotropin and testosterone levels | Hypogonadotropic hypogonadism | |
High gonadotropin and low testosterone levels | Hypergonadotropic hypogonadism | ||
High prolactin levels and rarely galactorrhea | Prolactinoma | ||
Altered kidney parameters with high prolactin and low testosterone levels | Renal failure | ||
Altered liver parameters with low testosterone and high estrogen levels | Liver failure | ||
Testis firm nodule and βhCG high levels | Testis cancer | ||
Exclude use of drugs altering testosterone levels and illicit drugs abuse | |||
Dermatological signs | Striae rubrae | Buffalo hump, moon face, high urinary cortisol levels, and lack of suppression in Nugent’s test | Cushing’s syndrome |
Predominance of catabolic symptoms with pressure sores, osteoporosis, profound hypokalemia, and severe hypertension with edema, high urinary cortisol levels and lack of suppression in Nugent’s test | Ectopic Cushing’s syndrome | ||
Hyperpigmentation | Fatigue, dizziness, nausea, vomiting, low blood pressure, high ACTH levels | Primary adrenal insufficiency | |
History of bilateral adrenectomy for refractory Cushing’s disease | Nelson’s syndrome | ||
Vitiligo | Check for thyroid autoimmunity and for symptoms associated to other gland autoimmune disease | ||
Hirsutism | Ovulatory dysfunction and/or polycystic ovarian morphology | PCOS | |
17αOH-progesterone levels > 10 ng/mL at baseline or after stimulation with ACTH | NCCAH | ||
Only hyperandrogenism | Idiopathic hyperandrogenism | ||
No hyperandrogenism or other signs | Idiopathic hirsutism | ||
Signs of virilization such as hypertrophy of the clitoris, deepening of the voice, and increased trophism of the muscle masses | Androgen-secreting tumors | ||
Hypertrichosis | Other signs of hypothyroidism | Hypothyroidism | |
Pretibial myxedema | Hyperthyroidism | ||
Polyneuropathy, organomegaly, endocrinopathy, M protein, and other skin changes | POEMS syndrome | ||
Acne | Ovulatory dysfunction and/or polycystic ovarian morphology, hirsutism | PCOS | |
17αOH-progesterone levels > 10 ng/mL at baseline or after stimulation with ACTH, hirsutism | NCCAH | ||
Buffalo hump, moon face, striae rubrae, high urinary cortisol levels and lack of suppression in Nugent’s test | Cushing’s syndrome | ||
NME | High glucagon levels, hypoaminoacidemia | Glucagonoma | |
Skin flushing | Telangiectasia, and pellagra-like lesions and asthma like symptoms | Carcinoid syndrome | |
Anthropometric signs | Eunuchoid habitus | Low gonadotropin and testosterone levels, gynoid obesity | Hypogonadotropic hypogonadism |
High gonadotropin and low testosterone levels, gynoid obesity | Hypergonadotropic hypogonadism | ||
overgrowth of the extremities | Pronounced protrusion of the frontal bumps, arching and thickening of the eyebrows, enlargement of the nose and ears, thickening of the lips, skin wrinkles, nasolabial folds, and mandibular prognathism, macroglossia, visceromegaly | Acromegalia | |
Short stature, protruding forehead, sparse and bristly hair, and crowded teeth | High GH and low IGF1 | GHIS | |
Low GH and IGF1 | GH deficiency | ||
Periorbital edema | Loss of the outer third of the eyebrows, lowering of the upper eyelid, enlarged nose, thickened lips, macroglossia | Hypothyroidism | |
Sings associated with metabolic disorders | Waist circumference and WHR | Obesity | Increased cardiovascular risk |
Ovulatory dysfunction and/or polycystic ovarian morphology, hirsutism | PCOS | ||
Decreased libido, erectile dysfunction, low testosterone levels | Hypogonadism | ||
Acanthosis nigricans | Hyperglycemia | Diabetes | |
Ovulatory dysfunction and/or polycystic ovarian morphology, hirsutism | PCOS | ||
Buffalo hump, moon face, striae rubrae, high urinary cortisol levels, and lack of suppression in Nugent’s test | Cushing’s syndrome | ||
Decreased libido, erectile dysfunction, low testosterone levels | Hypogonadism | ||
Overgrowth of the extremities, pronounced protrusion of the frontal bumps, arching and thickening of the eyebrows, enlargement of the nose and ears, thickening of the lips, skin wrinkles, nasolabial folds, and mandibular prognathism, macroglossia, visceromegaly | Acromegalia | ||
Palmar xanthoma | Dysbetalipoproteinemia | ||
Tendon and tuberous xanthomas | Young age, high cholesterol levels | Autosomal dominant hypercholesterolemia | |
Eruptive xanthomas | Severe hypertriglyceridemia | ||
Corneal arch | Young age, high cholesterol levels | Autosomal dominant hypercholesterolemia | |
Other signs | Trousseau sign | Paresthesias | Hypocalcemia |
Chvostek sign | Paresthesias | Hypocalcemia | |
Visual reduction up to bitemporal hemianopsia | Diplopia | Optic chiasm compression by pituitary adenoma |
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Crafa, A.; Condorelli, R.A.; Cannarella, R.; Aversa, A.; Calogero, A.E.; La Vignera, S. Physical Examination for Endocrine Diseases: Does It Still Play a Role? J. Clin. Med. 2022, 11, 2598. https://doi.org/10.3390/jcm11092598
Crafa A, Condorelli RA, Cannarella R, Aversa A, Calogero AE, La Vignera S. Physical Examination for Endocrine Diseases: Does It Still Play a Role? Journal of Clinical Medicine. 2022; 11(9):2598. https://doi.org/10.3390/jcm11092598
Chicago/Turabian StyleCrafa, Andrea, Rosita A. Condorelli, Rossella Cannarella, Antonio Aversa, Aldo E. Calogero, and Sandro La Vignera. 2022. "Physical Examination for Endocrine Diseases: Does It Still Play a Role?" Journal of Clinical Medicine 11, no. 9: 2598. https://doi.org/10.3390/jcm11092598